Variant report

Variant	rs2190630
Chromosome Location	chr14:72590719-72590720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12434682	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12879713	0.82[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs12882085	0.80[YRI][hapmap]
rs12883809	0.89[CHB][hapmap];0.90[YRI][hapmap];0.84[ASN][1000 genomes]
rs12892488	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs12894109	0.80[ASN][1000 genomes]
rs12895415	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs17107825	0.83[JPT][hapmap]
rs17179706	0.86[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2238261	0.89[CHB][hapmap]
rs2283419	0.82[ASN][1000 genomes]
rs3784052	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs4902988	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs981975	0.85[CEU][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv902076	chr14:72565656-72632217	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv902077	chr14:72576679-72632217	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv902078	chr14:72581575-72628433	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv902079	chr14:72583802-72632217	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv902080	chr14:72587872-72632217	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72566600-72591800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72584200-72600600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:72584400-72595400	Weak transcription	Left Ventricle	heart
4	chr14:72590200-72590800	Enhancers	GM12878-XiMat	blood
5	chr14:72590200-72591200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr14:72590200-72591800	Enhancers	Primary hematopoietic stem cells	blood
7	chr14:72590400-72590800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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